Canonical Allele Identifier: CA2070672

Gene: NDUFS1

Linked Data

• ExAC: 2:207009773 ACTATGGTGCTTTTGGGAATAAAGAAAGTTTCTGTTACCTGGTTTACCAAAAAATTTTTTTTACAATTAATTCCCTTTCTGAATTACTTT / A
• gnomAD v2: 2-207009773-ACTATGGTGCTTTTGGGAATAAAGAAAGTTTCTGTTACCTGGTTTACCAAAAAATTTTTTTTACAATTAATTCCCTTTCTGAATTACTTT-A
• gnomAD v3: 2-206145049-ACTATGGTGCTTTTGGGAATAAAGAAAGTTTCTGTTACCTGGTTTACCAAAAAATTTTTTTTACAATTAATTCCCTTTCTGAATTACTTT-A
• gnomAD v4: 2-206145049-ACTATGGTGCTTTTGGGAATAAAGAAAGTTTCTGTTACCTGGTTTACCAAAAAATTTTTTTTACAATTAATTCCCTTTCTGAATTACTTT-A
• MyVariant Identifiers: chr2:g.207009774_207009862del (hg19) ; chr2:g.206145050_206145138del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145050_206145138del , CM000664.2:g.206145050_206145138del	GRCh38
NC_000002.11:g.207009774_207009862del , CM000664.1:g.207009774_207009862del	GRCh37
NC_000002.10:g.206718019_206718107del	NCBI36
NG_009248.1:g.19326_19414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.738-112_738-24del MANE Select	ENSP00000233190.5:n.738-112_738-24del
ENST00000233190.10:c.738-112_738-24del	ENSP00000233190.5:n.738-112_738-24del
ENST00000423725.5:c.567-112_567-24del	ENSP00000397760.1:n.567-112_567-24del
ENST00000432169.5:c.405-112_405-24del	ENSP00000409689.1:n.405-112_405-24del
ENST00000440274.5:c.630-112_630-24del	ENSP00000409766.1:n.630-112_630-24del
ENST00000449699.5:c.738-112_738-24del	ENSP00000399912.1:n.738-112_738-24del
ENST00000455934.6:c.780-112_780-24del	ENSP00000392709.2:n.780-112_780-24del
ENST00000457011.5:c.390-112_390-24del	ENSP00000400976.1:n.390-112_390-24del
NM_001199981.1:c.630-112_630-24del	NP_001186910.1:n.630-112_630-24del
NM_001199982.1:c.405-112_405-24del	NP_001186911.1:n.405-112_405-24del
NM_001199983.1:c.567-112_567-24del	NP_001186912.1:n.567-112_567-24del
NM_001199984.1:c.780-112_780-24del	NP_001186913.1:n.780-112_780-24del
NM_005006.6:c.738-112_738-24del	NP_004997.4:n.738-112_738-24del
XM_017004188.2:c.-53-81_-46del
NM_001199981.2:c.630-112_630-24del	NP_001186910.1:n.630-112_630-24del
NM_001199982.2:c.405-112_405-24del	NP_001186911.1:n.405-112_405-24del
NM_001199983.2:c.567-112_567-24del	NP_001186912.1:n.567-112_567-24del
NM_005006.7:c.738-112_738-24del MANE Select	NP_004997.4:n.738-112_738-24del
NM_001199984.2:c.780-112_780-24del	NP_001186913.1:n.780-112_780-24del